Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C1837084
Disease: Short metacarpal
Short metacarpal
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding)
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0424366
Disease: Self-harm
Self-harm
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C1963185
Disease: Obesity Adverse Event
Obesity Adverse Event
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
CUI: C0156247
Disease: Small kidney
Small kidney
0.700 1 2015 2015
dbSNP: rs1014959895
rs1014959895
0.801 0.286 16 68329105 stop gained G/C,T snp 4.0E-06; 1.6E-05
Severe mental retardation (I.Q. 20-34)
0.700 1 2015 2015